Consultation with UK Molecular Genetics Laboratories

Developing the laboratory testing and analytical capabilities required for cancer predisposition gene testing to become routinely available to those that can benefit is an essential component of the Mainstreaming Cancer Genetics (MCG) programme.

The MCG programme has developed, in collaboration with Illumina, Inc., the TruSight Cancer panel, which tests for 97 cancer predisposition genes. The panel is already being used to test for BRCA gene mutations in patients at the Royal Marsden Hospital through TGLclinical, a state-of-the-art clinical testing laboratory established at the Institute of Cancer Research (ICR). The technical, analytical and interpretive pipelines developed by the programme enable Next-Generation Sequencing (NGS) techniques such as TruSight Cancer testing to be used in parallel with traditional methods for clinical gene testing.

To help facilitate increased cancer predisposition gene testing in the UK, the programme held a consultation on Friday 4th July with senior representatives from all 23 UK Molecular Genetics Laboratories carrying out germline genetic testing.

The group discussed both the opportunities and challenges facing UK Molecular Genetics Laboratories. There were lively debates about the optimal models for delivering testing, data analysis and interpretation at the scale and speed required to meet the needs of people with cancer.

A survey of attendees prior to the event produced some interesting results, and raised further questions.

When asked if rationalising gene testing to fewer centres was the optimal way of delivering more testing, attendees gave a mixed response, with 43% answering ‘yes’, 33% ‘no’ and all others abstaining. Group discussions delved deeper, resulting in a strong consensus that UK testing should take a mixed-model approach, potentially with panel/exome/genome testing carried out by centralised service(s), with validation of results and predictive testing in family members conducted locally.

It was also clear that UK genetic testing laboratories are actively developing new sequencing technologies, 76% of laboratories are already using NGS in clinical testing, and 57% are using/plan to use the TruSight Cancer panel.

However, there are significant challenges to overcome. Discussions highlighted inequity in access to testing and inconsistencies and inefficiencies in how results are analysed, interpreted and reported. In particular sharing of data between labs on methods and variants is limited. All attendees agreed that improvements could and should be made to existing systems to facilitate greater consistency, transparency and equity of cancer predisposition gene testing.

The consultation discussions are being fed into the delivery of the MCG programme aims.